Autism probably begins in utero, and can be diagnosed at 4-6 months. However, right now in America, Autism is most often diagnosed at 4-6 years. The median diagnosis age in children with only 7 of the 12 classic Autism Spectrum Disorder symptoms is over 8. In these missed years, the child falls much further behind his or her peers than necessary. This tragedy is widespread, given that 1 in 42 boys is estimated to have Autism (1 in 68 children overall) (based upon U.S. Centers for Disease Control and Prevention, surveillance year 2010). Additionally there are few methods of managing or treating Autism, and almost no disease-modifying medical treatments. Why do these diagnosis and treatment gaps exist?
There is no blood test for autism. Nor is there a genetic, neural or physiological test. Astonishingly, the only way parents can know if their child has autism is to secure an appointment with multiple doctors (pediatrician, speech pathologist, perhaps neurologist) who observe the child playing and interacting with others, especially with the caregiver. This is time-consuming, must be done during doctors' hours, is challenging and contains subjective components, varies by clinician, does not usually generate numerical data or closely quantified symptoms or behaviors; and demands resources, knowledge and access to the health system—all contributing to delayed diagnosis.
There are also social factors. A parent's suspicion that his/her child has autism generally takes time to grow, especially with the first child or in parents with little child experience (no frame of reference). Furthermore, the decision to seek help may be clouded by fear, doubt, denial, guilt, stigma, embarrassment, lack of knowledge, distrust of the medical system, and confusion. Once the decision is made, it can be a protracted, uphill battle to find the right care center and secure the screening appointment and a correct diagnosis. All these factors are amplified for at-risk families with low SES, low education level, language and cultural barriers, familial ASD; and in single-parent or dual job families. Time that passes before diagnosis reduces the child's social and emotional development, learning of language, and eventual level of function in society.
Even if the family surmounts various hurdles and comes in for an official diagnosis, hospital admission and the test environment can be daunting and unnatural, especially for those with language, cultural or SES barriers.
In this context, a shy child may seem autistic and an ASD child may completely shut down, especially since ASD children are particularly averse to changes in familiar settings and routines. Thus, the child may be diagnosed as further along the Autism spectrum than is the reality, and false diagnoses such as retardation may be attached. This has profound consequences in terms of what schooling options are available to the child, how the parents and community treats the child, and the relationship that gets set up between the parents and the healthcare system. Even in a friendly testing lab, clinicians cannot see the child play and interact exactly as he/she does in the familiar home environment, and can never see the child through the caregiver's eyes, nor see the world through the child's eyes. Importantly, there are no widely adopted systems for objectively quantifying behavioral markers nor neural signals associated with ASD, especially at home.
Even when and if a diagnosis is achieved, there are few options available to the family (or to the school or health care giver) that quantify the degree of severity of the child's symptoms. Autism is a spectrum of course, and people with autism spectrum disorders have a range of characteristic symptoms and features, each to varying degrees of severity if at all. Measuring these and characterizing the overall disorder fingerprint for each person is an important advance for the initial characterization, as per above, but importantly this fingerprint is dynamic over time, especially in the context of attempted treatments and schooling options, so measuring the changing severity and nature of each feature is important. This is the tracking or progress-assessment framework. Additionally, perhaps one of the greatest unmet needs within ASD comes in terms of the treatment or training framework. That is to say, mechanisms for providing intervention of one kind or another that can have a disease-modifying or symptom-modifying impact. There are few options available to the families affected, and again, there are few options for rigorously quantifying the results.